Publication: Nuevos avances en el tratamiento de la fibrosis quística
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2017-02
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Abstract
La fibrosis quística es una enfermedad genética, de herencia autosómica recesiva, más frecuente en la población de origen caucásico, donde presenta una incidencia de 1 caso cada 2.000-6.000 nacimientos. La identificación del gen que codifica para el canal CFTR en 1989 permitió el desarrollo de fármacos cuyo objetivo es modificar la expresión y/o función del canal CFTR. Actualmente, sólo hay dos fármacos moduladores del canal CFTR aprobados para el tratamiento de la fibrosis quística: el ivacaftor, que fue aprobado por la FDA y la EMA en el año 2012, y la combinación de ivacaftor y lumacaftor, que fue aprobada en ambas agencias en el año 2015. Aunque ambos fármacos han supuesto un gran avance por su enfoque novedoso sobre el modo de tratar la enfermedad, los resultados clínicos obtenidos hasta el momento han demostrado una mejora modesta en la calidad de vida de los afectados en comparación con el tratamiento clásico.
Cystic fibrosis is an autosomal recessive genetic disease, with highest prevalence in Caucasian population, with an incidence rate of 1/2.000-6.000 newborns. The discovery of the gene that codes for the CFTR channel protein in 1989 allowed to develop treatments that target the expression and function of the CFTR channel. Nowadays, there are only two approved treatments for cystic fibrosis: ivacaftor, which was approved by the FDA and the EMA in 2012, and the combination of ivacaftor and lumacaftor, which was approved in 2015. Although those drugs represent a new approach to the treatment of the disorder, the clinical improvements seen to the present show only modest improvement in quality of life of people affected compared to classic treatment.
Cystic fibrosis is an autosomal recessive genetic disease, with highest prevalence in Caucasian population, with an incidence rate of 1/2.000-6.000 newborns. The discovery of the gene that codes for the CFTR channel protein in 1989 allowed to develop treatments that target the expression and function of the CFTR channel. Nowadays, there are only two approved treatments for cystic fibrosis: ivacaftor, which was approved by the FDA and the EMA in 2012, and the combination of ivacaftor and lumacaftor, which was approved in 2015. Although those drugs represent a new approach to the treatment of the disorder, the clinical improvements seen to the present show only modest improvement in quality of life of people affected compared to classic treatment.